We have performed prenatal diagnosis for Wiskott-Aldrich syndrome (WAS) in two unrelated families by direct gene analysis. Using a combined non-radioactive analysis of single-strand conformational polymorphism (SSCP) and heteroduplex formation (HD), followed by automated sequencing, we studied DNA f
Prenatal molecular diagnosis of glutaric aciduria type I by direct mutation analysis
โ Scribed by C. Busquets; M. J. Coll; B. Merinero; M. Ugarte; M. A. Ruiz; A. Martinez Bermejo; A. Ribes
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 119 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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